gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.69723889 (AFR)
Genomes Max Group AF
0.69723889 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10835926C>T , CM000665.2:g.10835926C>T | GRCh38 |
| NC_000003.11:g.10877611C>T , CM000665.1:g.10877611C>T | GRCh37 |
| NC_000003.10:g.10852611C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254488.7:c.624-8288C>T MANE Select | ENSP00000254488.2:n.624-8288C>T | |
| ENST00000254488.6:c.624-8288C>T | ENSP00000254488.2:n.624-8288C>T | |
| NM_014229.1:c.624-8288C>T | NP_055044.1:n.624-8288C>T | |
| XM_011534032.1:c.624-8288C>T | XP_011532334.1:n.624-8288C>T | |
| XM_011534033.1:c.624-8288C>T | XP_011532335.1:n.624-8288C>T | |
| NM_014229.2:c.624-8288C>T | NP_055044.1:n.624-8288C>T | |
| XM_011534033.2:c.624-8288C>T | XP_011532335.1:n.624-8288C>T | |
| XM_017007073.1:c.47-5013C>T | XP_016862562.1:n.47-5013C>T | |
| NM_014229.3:c.624-8288C>T MANE Select | NP_055044.1:n.624-8288C>T |